| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Gurneel K Dhanesar, Harish Rengarajan, Baidarbhi Chakrabort. Malignant Perivascular Epithelioid Cell Tumor of the Uterus. Cureus. vol 15. issue 7. 2023-08-14. PMID:37575749. |
they belong to the family of mesenchymal tumors and include angiomyolipomas, clear cell sugar tumors of the lung, and pecomas not otherwise specified (nos). tuberous sclerosis complex 1 (tsc1) and tuberous sclerosis complex 2 (tsc2) gene mutation is associated with pecoma, which causes hyperactivation of the mammalian target of rapamycin (mtor) signaling pathway. |
2023-08-14 |
2023-08-16 |
Not clear |
| Sameer C Dhamne, Meera E Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M McTighe, Sarika Gurnani, Sheryl Anne D Vermudez, Daniel Curtis, Christopher J Wilson, Mustafa Q Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahi. Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor. Annals of clinical and translational neurology. 2023-08-07. PMID:37545094. |
tuberous sclerosis complex (tsc) is a neurodevelopmental disorder caused by autosomal-dominant pathogenic variants in either the tsc1 or tsc2 gene, and it is characterized by hamartomas in multiple organs, such as skin, kidney, lung, and brain. |
2023-08-07 |
2023-08-14 |
mouse |
| Marjan Taherian, Paria Bayati, Mohammad-Ali Assarehzadegan, Mansoureh Soleimani, Hadi Poormoghim, Nazanin Mojtabav. Insights into Overlappings of Fibrosis and Cancer: Exploring the Tumor-related Cardinal Genes in Idiopathic Pulmonary Fibrosis. Iranian journal of allergy, asthma, and immunology. vol 22. issue 2. 2023-07-27. PMID:37496412. |
gene expression analyses indicated a significant elevation of regulatory associated protein of mtor (raptor), ras homolog enriched in brain (rheb), s6 kinase 1, and eukaryotic translation initiation factor 4e-binding protein 1 (4ebp1), as well as a significant reduction of vegfa, tuberous sclerosis complex (tsc2), and lrp1; no changes were observed in the tsc1 mrna level. |
2023-07-27 |
2023-08-14 |
mouse |
| Fang Qiu, Yun Luo, An-Ting Zhan, Fang-Gu Li, Yi-Ming Fa. Solitary scalp folliculocystic and collagen hamartoma caused by c.2353C>T TSC2 somatic mutation in a sporadic case of tuberous sclerosis complex with calvarial fibrous dysplasia. European journal of dermatology : EJD. vol 33. issue 2. 2023-07-11. PMID:37431128. |
solitary scalp folliculocystic and collagen hamartoma caused by c.2353c>t tsc2 somatic mutation in a sporadic case of tuberous sclerosis complex with calvarial fibrous dysplasia. |
2023-07-11 |
2023-08-14 |
Not clear |
| Erin Gibbons, Briaunna M N Minor, Stephen R Hamme. Lymphangioleiomyomatosis: where endocrinology, immunology and tumor biology meet. Endocrine-related cancer. 2023-07-06. PMID:37410387. |
lymphangioleiomyomatosis (lam) is a cystic lung disease found almost exclusively in genetic females and caused by small clusters of smooth muscle cell tumors containing mutations in one of the two tuberous sclerosis genes (tsc1 or tsc2). |
2023-07-06 |
2023-08-14 |
Not clear |
| Pooja Navale, Deyali Chatterjee, Malak Itani, Nikolaos A Trikalino. Tuberous sclerosis complex mutations in patients with pancreatic neuroendocrine tumors. Observations on phenotypic and treatment-related associations. Virchows Archiv : an international journal of pathology. 2023-06-24. PMID:37354253. |
pancreatic neuroendocrine tumors (pannets) in familial tuberous sclerosis (tsc1 and tsc2 mutations) have been known and studied. |
2023-06-24 |
2023-08-14 |
Not clear |
| Rebecca A Reynolds, Diane J Aum, Ignacio Gonzalez-Gomez, Michael Wong, Kaleigh Roberts, Sonika Dahiya, Luis F Rodriguez, Jarod L Roland, Matthew D Smyt. Subependymal giant-cell astrocytomas in the absence of tuberous sclerosis. Journal of neurosurgery. Pediatrics. 2023-06-17. PMID:37327147. |
tuberous sclerosis is a rare genetic condition caused by tsc1 or tsc2 mutations that can be inherited, sporadic, or the result of somatic mosaicism. |
2023-06-17 |
2023-08-14 |
Not clear |
| Kleanthi Chalkiadaki, Elpida Statoulla, Maria Zafeiri, Nabila Haji, Jean-Claude Lacaille, Craig M Powell, Seyed Mehdi Jafarnejad, Arkady Khoutorsky, Christos G Gkogka. Reversal of memory and autism-related phenotypes in Frontiers in cell and developmental biology. vol 11. 2023-06-09. PMID:37293130. |
reversal of memory and autism-related phenotypes in tuberous sclerosis complex (tsc) is a rare monogenic disorder co-diagnosed with high rates of autism and is caused by loss of function mutations in the tsc1 or tsc2 genes. |
2023-06-09 |
2023-08-14 |
mouse |
| Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niid. Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene. Stem cell research. vol 70. 2023-06-04. PMID:37271041. |
establishment of human induced pluripotent stem cell lines, kmugmci006, from a patient with tuberous sclerosis complex (tsc) bearing mosaic nonsense mutations in the tuberous sclerosis complex 2 (tsc2) gene. |
2023-06-04 |
2023-08-14 |
human |
| Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niid. Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene. Stem cell research. vol 70. 2023-06-04. PMID:37271041. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either tsc1 or tsc2. |
2023-06-04 |
2023-08-14 |
human |
| Agung Triono, Elisabeth S Herini, Kristy Iskandar, Marissa L Hadiyanto, Kania Diantika, Veronica W Wijayanti, Gunad. De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report. Annals of medicine and surgery (2012). vol 85. issue 5. 2023-05-25. PMID:37228977. |
de novo mutation of the tsc2 gene in patient with tuberous sclerosis complex-associated neuropsychiatric disorders (tand) phenotype: a case report. |
2023-05-25 |
2023-08-14 |
Not clear |
| Elisabetta Chiaradia, Ingrid Miller, Giovanni Renzone, Alessia Tognoloni, Alice Polchi, Federico De Marco, Brunella Tancini, Andrea Scaloni, Alessandro Magin. Proteomic analysis of murine Tsc1-deficient neural stem progenitor cells. Journal of proteomics. 2023-05-19. PMID:37207814. |
significance: tuberous sclerosis complex (tsc) is a multisystemic disorder caused by inactivating mutations of tsc1 or tsc2 genes, which induce overactivation of the mtor component. |
2023-05-19 |
2023-08-14 |
Not clear |
| Katarzyna Klonowska, Krinio Giannikou, Joannes M Grevelink, Barbara Boeszoermenyi, Aaron R Thorner, Zachary T Herbert, Antara Afrin, Alison M Treichel, Lana Hamieh, Katarzyna Kotulska, Sergiusz Jozwiak, Joel Moss, Thomas N Darling, David J Kwiatkowsk. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex. American journal of human genetics. 2023-05-04. PMID:37141891. |
tuberous sclerosis complex (tsc) is a neurogenetic disorder due to loss-of-function tsc1 or tsc2 variants, characterized by tumors affecting multiple organs, including skin, brain, heart, lung, and kidney. |
2023-05-04 |
2023-08-14 |
Not clear |
| Fateme Tehrani, Nahideh Khosroshahi, Zarrin Keihani Doust, Soheila Dabiran, Mohammad Reza Zarkes. The Efficacy and Safety of Rapamycin in Children with Tuberous Sclerosis: A Cross-sectional Study. Iranian journal of child neurology. vol 17. issue 2. 2023-04-24. PMID:37091468. |
mutations in tsc1 or tsc2 genes have been proposed as the main causative factors responsible for developing tuberous sclerosis complex (tsc). |
2023-04-24 |
2023-08-14 |
Not clear |
| Elisa Montaguti, Valentina Gesuete, Antonella Perolo, Anna Balducci, Marta Fiorentini, Andrea Donti, Gianluigi Pil. A case of massive fetal cardiac rhabdomyoma: ultrasound features and management. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. vol 36. issue 1. 2023-04-09. PMID:37031967. |
fetal echoencephalography and brain magnetic resonance did not show any further fetal anomalies, but molecular genetic testing at amniocentesis revealed a heterozygotic missense variant of gene tsc2 associated with tuberous sclerosis. |
2023-04-09 |
2023-08-14 |
Not clear |
| Nyamdelger Sukhbaatar, Maria Schöller, Stephanie Deborah Fritsch, Monika Linke, Stefanie Horer, Manuela Träger, Mario Mazic, Stephan Forisch, Karine Gonzales, Jan Pascal Kahler, Carina Binder, Caroline Lassnig, Birgit Strobl, Mathias Mueller, Barbara Scheiber-Mojdehkar, Claudia Gundacker, Stefanie Dabsch, Renate Kain, Markus Hengstschläger, Steven Verhelst, Günter Weiss, Igor Theurl, Thomas Weichhar. Duodenal macrophages control dietary iron absorption via local degradation of transferrin. Blood. 2023-04-05. PMID:37018657. |
by assessing mice that harbor a macrophage-specific deletion of the tuberous sclerosis complex 2 (tsc2), a negative regulator of mtorc1, we found that these mice possessed various defects in iron metabolism including defective steady state erythropoiesis and a reduced saturation of transferrin with iron. |
2023-04-05 |
2023-08-14 |
mouse |
| Keiko Nishikawa, Yoshihiro Mezawa, Toshiyuki Kobayash. Bcat1 is controlled by Tsc2/mTORC1 pathway at expression levels and its deficiency together with Bcat2 inactivation suppresses the growth of a Tsc2 Genes to cells : devoted to molecular & cellular mechanisms. 2023-03-25. PMID:36965015. |
bcat1 is controlled by tsc2/mtorc1 pathway at expression levels and its deficiency together with bcat2 inactivation suppresses the growth of a tsc2 the tuberous sclerosis complex (tsc) gene products (tsc1/tsc2) negatively regulate mtorc1. |
2023-03-25 |
2023-08-14 |
Not clear |
| Lijun Lv, Jiyu Guan, Ruixue Zhen, Pin Lv, Mengshi Xu, Xingyuan Liu, Shishi He, Ziyu Fang, Zi Li, Yungang Lan, Huijun Lu, Wenqi He, Feng Gao, Kui Zha. Orf virus induces complete autophagy to promote viral replication via inhibition of AKT/mTOR and activation of the ERK1/2/mTOR signalling pathway in OFTu cells. Veterinary research. vol 54. issue 1. 2023-03-15. PMID:36918891. |
moreover, orfv-induced autophagic activity was found to rely on an increase in the phosphorylation of tuberous sclerosis complex 2 (tsc2) and a decrease in the phosphorylation of mammalian target of rapamycin (mtor), which is mediated by the suppression of the pi3k/akt/mtor signalling pathway and activation of the erk1/2/mtor signalling pathway. |
2023-03-15 |
2023-08-14 |
Not clear |
| Eduardo Félix Martins Santana, Ana Maria Faria Esteves, Daniella Guerra Delorenzo, Celso Hygino, Heron Werner, Edward Araujo Júnio. Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging-A Report of Two Cases. The Indian journal of radiology & imaging. vol 33. issue 1. 2023-03-01. PMID:36855718. |
tuberous sclerosis complex (tsc) is a multiple system neurocutaneous syndrome with a genetic disorder caused by different mutations in tsc1 or tsc2. |
2023-03-01 |
2023-08-14 |
Not clear |
| Gesabel Yaneth Navarro-Velasco, Antonio Di Pietro, Manuel Sánchez López-Berge. Constitutive activation of TORC1 signalling attenuates virulence in the cross-kingdom fungal pathogen Fusarium oxysporum. Molecular plant pathology. 2023-02-25. PMID:36840362. |
inactivation of the negative regulator tuberous sclerosis complex 2 (tsc2), but not constitutive activation of the positive regulator gtr1, in f. oxysporum resulted in inappropriate activation of torc1 signalling under nutrient-limiting conditions. |
2023-02-25 |
2023-08-14 |
Not clear |